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Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P. de Crecchio G, et al. Among authors: Castelluccio P. Clin Genet. 1998 Oct;54(4):315-20. doi: 10.1034/j.1399-0004.1998.5440409.x. Clin Genet. 1998. PMID: 9831343
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
De Crescenzo A, Citro V, Freschi A, Sparago A, Palumbo O, Cubellis MV, Carella M, Castelluccio P, Cavaliere ML, Cerrato F, Riccio A. De Crescenzo A, et al. Among authors: Castelluccio P. J Hum Genet. 2015 Jun;60(6):287-93. doi: 10.1038/jhg.2015.29. Epub 2015 Mar 26. J Hum Genet. 2015. PMID: 25809938
Phenotypic variability in the chromosome 9 ring.
Cavaliere ML, Rinaldi MM, Castelluccio P, Cioffi C, Vendemmia M, Vendemmia S. Cavaliere ML, et al. Among authors: Castelluccio P. Acta Biomed Ateneo Parmense. 1997;68 Suppl 1:85-9. Acta Biomed Ateneo Parmense. 1997. PMID: 10021722 Review.
Later observation of other cases has allowed the syndrome to be described, so that it can be said to be characterized by constant signs, such as microcephaly, psychomotor retardation of varying entity and facial dysmorphism corresponding to that observed in 9 p monosomy. ...
Later observation of other cases has allowed the syndrome to be described, so that it can be said to be characterized by constant signs, suc …
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Chatron N, Haddad V, Andrieux J, Désir J, Boute O, Dieux A, Baumann C, Drunat S, Gérard M, Bonnet C, Leheup B, Till M, Rossi M, Flori E, Alembik Y, Stewart H, McParland J, Bernardini L, Castelluccio P, Roos L, Tümer Z, Fagan K, Hackett A, Bain N, van Haeringen A, Ruivenkamp C, Benzacken B, Sanlaville D, Edery P, Aboura A, Schluth-Bolard C. Chatron N, et al. Among authors: Castelluccio P. Am J Med Genet A. 2015 May;167A(5):1008-17. doi: 10.1002/ajmg.a.36856. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25728055
Elevated Cerebrospinal Fluid Tau Protein Concentrations on Admission Are Associated With Long-term Neurologic and Cognitive Impairment in Ugandan Children With Cerebral Malaria.
Datta D, Conroy AL, Castelluccio PF, Ssenkusu JM, Park GS, Opoka RO, Bangirana P, Idro R, Saykin AJ, John CC. Datta D, et al. Among authors: Castelluccio PF. Clin Infect Dis. 2020 Mar 3;70(6):1161-1168. doi: 10.1093/cid/ciz325. Clin Infect Dis. 2020. PMID: 31044219
Alzheimer disease brain atrophy subtypes are associated with cognition and rate of decline.
Risacher SL, Anderson WH, Charil A, Castelluccio PF, Shcherbinin S, Saykin AJ, Schwarz AJ; Alzheimer's Disease Neuroimaging Initiative. Risacher SL, et al. Among authors: Castelluccio PF. Neurology. 2017 Nov 21;89(21):2176-2186. doi: 10.1212/WNL.0000000000004670. Epub 2017 Oct 25. Neurology. 2017. PMID: 29070667 Free PMC article.
Relationship of Hippocampal Volume to Amyloid Burden across Diagnostic Stages of Alzheimer's Disease.
Trzepacz PT, Hochstetler H, Yu P, Castelluccio P, Witte MM, Dell'Agnello G, Degenhardt EK; Alzheimer''s Disease Neuroimaging Initiative. Trzepacz PT, et al. Among authors: Castelluccio P. Dement Geriatr Cogn Disord. 2016;41(1-2):68-79. doi: 10.1159/000441351. Epub 2015 Dec 2. Dement Geriatr Cogn Disord. 2016. PMID: 26625159
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